Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function
Original Investigations
Received:
Revised:
Summary
A 21-year-old female dizygotic twin was referred for cytogenetic evaluation because of mild mental retardation. Significant history, clinical, and physical findings included irregular menses, mildly coarse facies, and microcornea. Chromosome analysis revealed a pericentric inversion of the X chromosome, 46,X,inv(X)(p11;q22). Her twin who is phenotypically normal was also found to carry the same inversion. The twins differ significantly in X chromosome inactivation and menstrual cycle function.
Keywords
Internal Medicine Metabolic Disease Menstrual Cycle Mental Retardation Chromosome Analysis
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Preview
Unable to display preview. Download preview PDF.
References
- Allderdice DW, Miller OJ, Klinger HP, Pallister PD, Opitz JM (1971) Demonstration of a spreading effect in an X-autosome translocation by combined autoradiographic and quinacrine fluorescence studies. Excerpta Med Int Cong Ser 223:14Google Scholar
- Barnabei VM, Wyandt HE, kelly TE (1981) A possible exception to the critical region hypothesis. Am J Hum Genet 33:61–66Google Scholar
- Buckton KE, Newton MS, Collyer S, Lee M, Spowart G, Seabright, M, Sanger R (1981) Phenotypically normal individuals with an inversion (X)(p22q13) and the recombinant (X), dup q. Ann Hum Genet 45:159–168Google Scholar
- Gartler SM, Sparkes RS (1963) The Lyon-Beutler hypothesis and isochromosome X patients with the Turner's syndrome. Lancet 2:411Google Scholar
- Grass FS, Schwartz RP, Deal JO, Parke JC (1981) Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female Clin Genet 20:28–35Google Scholar
- Kardon NB, Bronson R, Davis JG, Broekman A Rosenfeld D (1981) A duplication-deficiency X chromosome resulting from a maternal pericentric inversion. Abstract from 6th International Congress of Human Genetics, Jerusalem, Israel: 185Google Scholar
- Kristensen H, Friedrich U, Larsen G, Therkelsen AJ (1975) Structural X-chromosome abnormality in a female with gonadal dysgenesis. Hum Genet 26:133–138Google Scholar
- Latt SA, Willard HF, Gerald PS (1976) BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally aberrant chromosomes. Chromosoma 57:135–153Google Scholar
- Lucus M, Smithies A (1973) Banding patterns and autoradiography studies of cells with an X-autosome translocation. Ann Hum Genet 37:9–12Google Scholar
- Maeda T, Ohno M, Takada M, Nishida M, Tsukioka K, Tomita H (1979) Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromsome. Clin Genet 15:259–266Google Scholar
- Mann JD, Higgens J (1974) A case of primary amenorrhea associated with X-autosome translocation. Am J Hum Genet 26:416Google Scholar
- Nikolis J, Stolevic E (1978) Recombinant chromosome as a result of pericentric inversion of X chromosome. Hum Genet 45:115–122Google Scholar
- Niebuhr E, Seemanova E, Losan F (1974) Familiarni ryskyt pericentricke inverze X chromosomu. Cesk Pediatr 29:245–247Google Scholar
- Opitz JM, DeMars RI, Inhorn SL, Elejalde BR (1978) Follow-up on a human X-autosome translocation first studied in 1963 and 1964. Birth Defects XIV:365–375Google Scholar
- Potter AM (1982) Variations in replication pattern and phenotype in two cases of X chromosome inversion. J Med Genet 19:63Google Scholar
- Reed T (1981) Dermatoglyphics in medicine-problems and use in suspected chromosome abnormalities. Am J Med Genet 8:411–429Google Scholar
- Sarto GE, Therman E, Patau K (1973) X inactivation in man: a woman with t(Xq-,12p+). Am J Hum Genet 25:262–270Google Scholar
- Schempp W, Sigworth I, Vogel W (1978) Demonstration of replication patterns corresponding to G and R type banding of chromosomes after partial synchronization of cell cultures with BrdU or dT surplus. Hum Genet 45:199–202Google Scholar
- Sujansky E, Hsu LY, Lucus, M, Hirschhorn J (1973) Nature of X-autosome translocation and choice of X inactivation. Pediatr Res 7:343Google Scholar
- Summitt RL, Tipton RE, Wilroy RS, Martens PR, Phelan JP (1978) X-autosome translocations: A review. Birth Defects XIV:219–247Google Scholar
- Therman E, DennistonC, Sarto GE, Ulber M (1980) X chromosome constitution and the human female phenotype. Hum Genet 54:133–143Google Scholar
- Yunis JJ (1976) High resolution banding of human chromosomes. Science 191:1268–1270Google Scholar
- Vogel W, Schempp W, Sigworth I (1978) Comparison of thymidine, flurodeoxyuridine, hydroxyuria, and methothexate blocking at G1/S phase transition of the cell cycle studied by replication patterns. Hum Genet 45:193–198Google Scholar
Copyright information
© Springer-Verlag 1982